Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112191T>G , CM000663.2:g.6112191T>G | GRCh38 |
| NC_000001.10:g.6172251T>G , CM000663.1:g.6172251T>G | GRCh37 |
| NC_000001.9:g.6094838T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5089A>C MANE Select | ENSP00000262450.3:p.Lys1697Gln | |
| ENST00000262450.7:c.5089A>C | ENSP00000262450.3:p.Lys1697Gln | |
| ENST00000377999.5:c.1992A>C | ENSP00000367238.2:n.1992A>C | |
| ENST00000462991.5:c.3342A>C | ||
| ENST00000496404.1:c.3807A>C | ENSP00000433676.1:n.3807A>C | |
| NM_015557.2:c.5089A>C | NP_056372.1:p.Lys1697Gln | |
| NM_015557.3:c.5089A>C MANE Select | NP_056372.1:p.Lys1697Gln |